21 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Paradoxical Breathing on Physical Exam

Paradoxical breathing is often a sign of breathing problems. It causes the
breathing is often a sign ... It causes the chest ... #respiratory #clinical ... #video #pulmonary ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... Video by Dr. ... #Meningitis #Clinical ... #Pediatrics #Peds
Scarf Sign (Normal) on Physical Exam

The scarf sign is used to assess developmental age and muscle
Scarf Sign (Normal ... #clinical #video ... hypotonia #hypotonic #peds ... #pediatrics #tone ... #normal
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... of secretions normally ... #OtitisMedia #pathophysiology ... diagnosis #symptoms #signs ... #peds #pediatrics
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Aplastic Anemia Clinical ... and petechiae Causes ... : - Genetic lesions ... (MDS) (normal or ... megakaryocytes and a normal
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... symptoms are not caused ... ), liver (pain/abnormal ... Diagnosis #Management #Signs